Respiratory dysfunction in patients severely affected by GNE myopathy (distal myopathy with rimmed vacuoles)

Neuromuscular Disorders

Volumn 23, Issue 1, 2013, Pages 84-88

  Mori Yoshimura, Madoka ^a   Oya, Yasushi ^a   Hayashi, Yukiko K ^a,b   Noguchi, Satoru ^b   Nishino, Ichizo ^a,b   Murata, Miho ^a  

^a NATIONAL INSTITUTE OF MENTAL HEALTH   (Japan)

^b NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

Author keywords

Distal myopathy with rimmed vacuoles (DMRV); GNE myopathy; Hereditary inclusion body myopathy; N acetylmannosamine kinase domain; Respiratory dysfunction; Uridinediphosphate N acetylglucosamine (UDP GlcNAc) 2 epimerase domain

Indexed keywords

N ACETYLMANNOSAMINE KINASE; PHOSPHOTRANSFERASE; UNCLASSIFIED DRUG; URIDINE DIPHOSPHATE N ACETYLGLUCOSAMINE 2 EPIMERASE;

ADULT; ARTICLE; CLINICAL ARTICLE; DISEASE SEVERITY; DISTAL MYOPATHY WITH RIMMED VACUOLES; FEMALE; FORCED VITAL CAPACITY; GENE; GENE MUTATION; GNE GENE; GNE MYOPATHY; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; MALE; MEDICAL RECORD; MYOPATHY; ONSET AGE; POSITIVE END EXPIRATORY PRESSURE; PRIORITY JOURNAL; PROTEIN DOMAIN; RESPIRATORY FAILURE; RESPIRATORY FUNCTION; RETROSPECTIVE STUDY;

ADULT; AGE OF ONSET; CREATINE KINASE; DISTAL MYOPATHIES; FEMALE; GENOTYPE; HUMANS; MALE; MIDDLE AGED; MOBILITY LIMITATION; MUTATION; PHOSPHOTRANSFERASES (ALCOHOL GROUP ACCEPTOR); RESPIRATORY SYSTEM; RETROSPECTIVE STUDIES; VITAL CAPACITY;

EID: 84872402399     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2012.09.007     Document Type: Article

References (7)

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